This Panel is marked as Retired
Meiges disease
Gene: GATA2
GATA2 (GATA binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000179348
EnsemblGeneIds (GRCh37): ENSG00000179348
OMIM: 137295, Gene2Phenotype
GATA2 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000179348
EnsemblGeneIds (GRCh37): ENSG00000179348
OMIM: 137295, Gene2Phenotype
GATA2 is in 11 panels
1 review
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Primary Lymphedema with Myelodysplasia
- Immunodeficiency 21
- Leukemia, Acute Myeloid
- Lymphedema, Primary, With Myelodysplasia
- Myelodysplastic Syndrome
- GATA2 Deficiency
- Primary Lymphedema with Myelodysplasia, Emberger syndrome 614038
- Immunodeficiency 21 614172
- Leukemia, Acute Myeloid susceptibility to 601626
- Myelodysplastic Syndrome usceptibility to 614286
- OMIM
- 137295
- Clinvar variants
- Variants in GATA2
- Penetrance
- Complete
- Panels with this gene
-
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Intellectual disability
- Primary lymphoedema
- Cytopenias and congenital anaemias
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
History Filter Activity
29 Jul 2016, Gel status: 4
panel promoted to version 1
Richard Scott (Genomics England Curator)Ready for version 1
29 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
29 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
7 Oct 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)GATA2 was added to Meiges diseasepanel. Source: UKGTN
7 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)GATA2 was added to Meiges diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services